Showing 1 - 9 results of 9 for search 'Maki Fukami', query time: 0.02s Refine Results
  1. 1
    SHOX and sex difference in height: a hypothesis

    SHOX and sex difference in height: a hypothesis by Tsutomu Ogata, Atsushi Hattori, Maki Fukami

    Published 2025-01-01
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  2. 2
    Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome

    Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome by Maki Fukami, Makio Shozu, Tsutomu Ogata

    Published 2012-01-01
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  3. 3
    De novo retrotransposon insertion into the FGFR1 gene in a boy with congenital hypogonadotropic hypogonadism: a case report

    De novo retrotransposon insertion into the FGFR1 gene in a boy with congenital hypogonadotropic hypogonadism: a case report by Kentaro Sawano, Keisuke Nagasaki, Erina Suzuki, Yasuko Ogiwara, Ikuko Kageyama, Maki Fukami, Maki Fukami, Yoko Kuroki, Yoko Kuroki, Yoko Kuroki

    Published 2025-06-01
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  4. 4
    Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith–Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region

    Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith–Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted... by Tatsuki Urakawa, Yuri Kanamaru, Naoko Amano, Akira Uchida, Maki Fukami, Masayo Kagami

    Published 2025-06-01
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  5. 5
    Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review

    Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review by Wataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, Yuichiro Shirafuta, Yasuko Fujisawa, Maki Fukami, Norihiro Sugino, Tsutomu Ogata

    Published 2025-01-01
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  6. 6
    De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome

    De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome by Erina Suzuki, Hirohito Shima, Aki Ueda, Kazuhiko Nakabayashi, Keiko Matsubara, Yoko Kuroki, Junko Kanno, Maki Fukami

    Published 2025-01-01
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  7. 7
    Compound heterozygous KCTD19 variants in a man with isolated nonobstructive azoospermia

    Compound heterozygous KCTD19 variants in a man with isolated nonobstructive azoospermia by Yuki Muranishi, Yuko Katoh‐Fukui, Atsushi Hattori, Yoshitomo Kobori, Akiyoshi Osaka, Hiroshi Okada, Toshiyuki Iwahata, Masafumi Kon, Nobuo Shinohara, Maki Fukami

    Published 2024-01-01
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  8. 8
    Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency

    Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency by Antonino Montalbano, Lonny Juergensen, Ralph Roeth, Birgit Weiss, Maki Fukami, Susanne Fricke‐Otto, Gerhard Binder, Tsutomu Ogata, Eva Decker, Gudrun Nuernberg, David Hassel, Gudrun A Rappold

    Published 2016-11-01
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  9. 9
    The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers.

    The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. by Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Nobuhide Masawa, Kentarou Matsuoka, Maki Fukami, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata

    Published 2010-06-01
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